Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Atherosclerosis (D050197)
Parent Node: Peripheral Vascular Diseases (D016491)
..Starting node ..Peripheral Arterial Disease (D058729)
Child Nodes:
........Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
........Peripheral Arterial Occlusive Disease 1 (C564658)
Sister Nodes:
..Blue Toe Syndrome (D018438)
..Erythromelalgia (D004916)
..Livedo Reticularis (D054068) 1
..May-Thurner Syndrome (D062108)
..Peripheral Arterial Disease (D058729) 2
..Phlebitis (D010689) 3
..Raynaud Disease (D011928) 3
..Urethral obstruction sequence (C536477)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8813
Name:	Peripheral Arterial Disease
Definition:	Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less.
Alternative IDs:
ParentIDs:	MESH:D016491\|MESH:D050197
TreeNumbers:	C14.907.137.126.307.500 \|C14.907.617.671
Synonyms:	Arterial Disease, Peripheral \|Arterial Diseases, Peripheral \|Artery Disease, Peripheral \|Artery Diseases, Peripheral \|Disease, Peripheral Arterial \|Disease, Peripheral Artery \|Diseases, Peripheral Arterial \|Diseases, Peripheral Artery \|Peripheral Arterial Diseas
Slim Mappings:	Cardiovascular disease
Reference:	MedGen: D058729 MeSH: D058729 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants